International Journal of
Genetics and Molecular Biology

  • Abbreviation: Int. J. Genet. Mol. Biol.
  • Language: English
  • ISSN: 2006-9863
  • DOI: 10.5897/IJGMB
  • Start Year: 2009
  • Published Articles: 131

Full Length Research Paper

Full currarino syndrome associated to elhers danlos. One patient report at the hospital para El niño poblano Mexico

J. M. Aparicio-Rodríguez1,7*, R. Vargas-González 2, M. Barrientos-Pérez 3, L. De la Torre-Mondragón4, G. Victoria-Morales4, M. L. Hurtado-Hernández 5, E. Balbuena-Rosas6 and F. Lara-Hernández2
1Departments of Medical Genetics, Hospital Para el Nino Poblano, México. 2Clinical Pathology, Hospital Para el Nino Poblano, México. 3Endocrinology, Hospital Para el Nino Poblano, México. 4Pediatric Surgery, Hospital Para el Nino Poblano, México. 5Cytogenetics, Hospital Para el Nino Poblano, México. 6Dermatology, Hospital Para el Nino Poblano, México. 7Estomatology, Benemérita Universidad Autónoma de Puebla, México.
Email: [email protected]

  •  Published: 30 September 2009

Abstract

The Currarino triad described in 1981 involves the association of partial sacral agenesis with intact first sacral vertebra (sickle-shaped sacrum), a presacral mass, and anorectal malformation. Gene map locus 7q36, some cases of this syndrome are caused by mutation in the HLXB9 homeobox gene and dominant inheritance has been observed. The patient in this study was diagnosed as Full Currarino syndrome, with the clinical features, (sacral agenesis, presacral mass, and anorectal malformation). The diagnosis is usually made in children (80%) and adults (20%). In 2007, it was found that prenatal diagnosis is possible. The patient had skin and bones articulation hyperlaxitud, where elastic fibers alteration was confirmed by skin biopsy. It has evidence of autosomal dominant inheritance. In 1995, it was associated to chromosome 7q36 and only hemisacrum is reported in 1998 by mutations in the HLXB9 gene. In 1994, it was described as association with partial trisomy of 13q and 20p. The caryotipe of the patient in this study was normal 46 X

 

Key words: Sacral Agenesis, presacral mass, teratoma, anorectal malformation, homeobox genes, chromosome.